Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D537E
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SMAD4

NM_005359.6:p.D537E

Associated Papers

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Despas L et al.

Journal of Medical Genetics, 2025

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Jbara A et al.

Nature, 2023

36949200 (PubMed )
Supplement: NIHMS1897967-supplement-1897967_Supp_table_1.xlsx › clin_data_PDA_Patients

PRMT5 methylating SMAD4 activates TGF-β signaling and promotes colorectal cancer metastasis.

Liu A et al.

Oncogene, 2023

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Biophysical simulations and structure-based modeling of residue interaction networks in the tumor suppressor proteins reveal functional role of cancer mutation hotspots in molecular communication.

Verkhivker GM

Biochimica Et Biophysica Acta. General Subjects, 2019

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

Roles for lysine residues of the MH2 domain of Smad3 in transforming growth factor-beta signaling.

Imoto S et al.

Febs Letters, 2005

Regulation of large-scale chromatin unfolding by Smad4.

Yan J et al.

Biochemical and Biophysical Research Communications, 2004

Receptor-regulated Smads in TGF-beta signaling.

Liu F

Frontiers in Bioscience : a Journal and Virtual Library, 2003

Loss of Smad4 function in pancreatic tumors: C-terminal truncation leads to decreased stability.

Maurice D et al.

The Journal of Biological Chemistry, 2001

Distinct oligomeric states of SMAD proteins in the transforming growth factor-beta pathway.

Jayaraman L et al.

The Journal of Biological Chemistry, 2000

Regulation of intracellular dynamics of Smad4 by its leucine-rich nuclear export signal.

Watanabe M et al.

Embo Reports, 2000

Heterogeneities in the biological and biochemical functions of Smad2 and Smad4 mutants naturally occurring in human lung cancers.

Yanagisawa K et al.

Oncogene, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."